Varaico: Literature-Extracted Genetic Variants

Gene:BECN1
Variant:p.S234G

BECN1

236 papers

RefSeq Summary

This gene encodes a protein that regulates autophagy, a catabolic process of degradation induced by starvation. The encoded protein is a component of the phosphatidylinositol-3-kinase (PI3K) complex w...

Pfam Domains

BH3aa 105–129UCSCBeclin-1 BH3 domain, Bcl-2-interacting
APG6_Naa 135–261UCSCApg6 coiled-coil region
APG6aa 264–445UCSCApg6 BARA domain

Gene Aliases

HGNC Name

beclin 1

HGNC Alias Symbols

ATG6; VPS30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001313998.2
p.S234G
c.700A>G
Surrounding Variants
3 papers
NM_001313998.2
p.Y233F
c.698A>T
1 paper
NM_001313998.2
p.Y229F
c.686A>T
1 paper
NM_001313998.2
p.Q239P
c.716A>C
1 paper
NM_001313998.2
p.D245Y
c.733G>T
1 paper
NM_001313998.2
p.E246D
c.738G>T
1 paper
NM_001313998.2
p.E246D
c.738G>C
3 papers
NM_001313998.2
p.V250A
c.749T>C
1 paper
NM_001313998.2
p.E251_N252del1
c.752_754delTTT
1 paper
NM_001313998.2
p.M254K
c.761T>A
1 paper
NM_001313998.2
p.R255C
c.763C>T
1 paper
NM_001313998.2
p.Q258H
c.774G>T
1 paper
NM_001313998.2
p.Q258H
c.774G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."